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Reviewed, UniProtKB/Swiss-Prot Q9H6U6 (BCAS3_HUMAN)

Last modified June 16, 2009. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Breast carcinoma-amplified sequence 3
Alternative name(s):
    Maab1 protein
    GAOB1
Gene names
Name: BCAS3
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length928 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subcellular location

Nucleus Potential.

Tissue specificity

Stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leucocyte and mammary epithelial cells. Overexpressed in most breast cancer cell lines. Ref.1

Developmental stage

Fetal.

Involvement in disease

A chromosomal aberration involving BCAS3 may be a cause of breast cancer. Translocation t(17;20)(q23;q13) with BCAS4.

Sequence similarities

Belongs to the WD repeat BCAS3 family.

Contains 3 WD repeats.

Sequence caution

The sequence AAF70324.1 differs from that shown. Reason: Frameshift at position 693.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseProto-oncogene
   DomainRepeat
WD repeat
   PTMPhosphoprotein
Gene Ontology (GO)
   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q9H6U6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: Q9H6U6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     547-561: Missing.
Isoform 3 (identifier: Q9H6U6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     547-561: Missing.
     879-879: T → TDTALDVAVKTFPPERHVAVKCF
Isoform 4 (identifier: Q9H6U6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     546-546: G → GPYLFGAGCFSIKAPC
     879-879: T → TDTALDVAVKTFPPERHVAVKCF
Isoform 5 (identifier: Q9H6U6-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-829: Missing.
     830-879: VTLLEVCGSW...PSRDVVGSGT → ALDVAVKTFP...VTKHAFGMEE
Note: Incomplete sequence. No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 928928Breast carcinoma-amplified sequence 3
PRO_0000050883

Regions

Repeat69 – 11446WD 1
Repeat349 – 38941WD 2
Repeat403 – 44745WD 3

Sites

Site824 – 8252Breakpoint for translocation to form BCAS4-BCAS3

Amino acid modifications

Modified residue4801Phosphoserine Ref.7
Modified residue4881Phosphoserine Ref.7
Modified residue8691Phosphoserine By similarity
Modified residue8861Phosphoserine By similarity

Natural variations

Alternative sequence1 – 829829Missing in isoform 5.
VSP_007856
Alternative sequence5461G → GPYLFGAGCFSIKAPC in isoform 4.
VSP_007857
Alternative sequence547 – 56115Missing in isoform 1 and isoform 3.
VSP_007858
Alternative sequence830 – 87950VTLLE…VGSGT → ALDVAVKTFPPERHVAVKCF GKKKGKKNNANSPASVSNPT VTKHAFGMEE in isoform 5.
VSP_007859
Alternative sequence8791T → TDTALDVAVKTFPPERHVAV KCF in isoform 3 and isoform 4.
VSP_007860
Natural variant1061I → V: dbSNP rs34712615.
VAR_057583

Experimental info

Sequence conflict291K → E in BAB15156. Ref.2
Sequence conflict1271K → R in BAB15156. Ref.2
Sequence conflict199 – 2002VV → II in BAB15156. Ref.2
Sequence conflict5331K → E in BAB14380. Ref.2
Sequence conflict6401D → G in BAB15156. Ref.2
Sequence conflict6661Q → R in BAB14078. Ref.2
Sequence conflict8061S → P in BAB15156. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified July 25, 2003. Version 2.
Checksum: F6CF90372C344765

FASTA928101,181
        10         20         30         40         50         60 
MNEAMATDSP RRPSRCTGGV VVRPQAVTKQ SYMESVVTFL QDVVPQAYSG TPLTEEKEKI 

        70         80         90        100        110        120 
VWVRFENADL NDTSRNLEFH EIHSTGSEPP LLIMIGYSDG MQVWSIPISG EAQELFSVRH 

       130        140        150        160        170        180 
GPIRAAKILP APQFGAQKCD NFAEKRPLLG VCKSIGSSGT SPPYCCVDLY SLRTGEMVKS 

       190        200        210        220        230        240 
IQFKTPIYDL HCNKRILVVV LQEKIAAFDS CTFTKKFFVT SCYPCPGPNM NPIALGSRWL 

       250        260        270        280        290        300 
AYAENKLIRC HQSRGGACGD NIQSYTATVI SAAKTLKSGL TMVGKVVTQL TGTLPSGVTE 

       310        320        330        340        350        360 
DDVAIHSNSR RSPLVPGIIT VIDTETVGEG QVLVSEDSDS DGIVAHFPAH EKPVCCMAFN 

       370        380        390        400        410        420 
TSGMLLVTTD TLGHDFHVFQ ILTHPWSSSQ CAVHHLYTLH RGETEAKVQD ICFSHDCRWV 

       430        440        450        460        470        480 
VVSTLRGTSH VFPINPYGGQ PCVRTHMSPR VVNRMSRFQK SAGLEEIEQE LTSKQGGRCS 

       490        500        510        520        530        540 
PVPGLSSSPS GSPLHGKLNS QDSYNNFTNN NPGNPRLSPL PSLMVVMPLA QIKQPMTLGT 

       550        560        570        580        590        600 
ITKRTGPYLF GAGCFSIKAP CKVKPPPQIS PSKSMGGEFC VAAIFGTSRS WFANNAGLKR 

       610        620        630        640        650        660 
EKDQSKQVVV ESLYIISCYG TLVEHMMEPR PLSTAPKISD DTPLEMMTSP RASWTLVRTP 

       670        680        690        700        710        720 
QWNELQPPFN ANHPLLLAAD AVQYYQFLLA GLVPPGSPGP ITRHGSYDSL ASDHSGQEDE 

       730        740        750        760        770        780 
EWLSQVEIVT HTGPHRRLWM GPQFQFKTIH PSGQTTVISS SSSVLQSHGP SDTPQPLLDF 

       790        800        810        820        830        840 
DTDDLDLNSL RIQPVRSDPV SMPGSSRPVS DRRGVSTVID AASGTFDRSV TLLEVCGSWP 

       850        860        870        880        890        900 
EGFGLRHMSS MEHTEEGLRE RLADAMAESP SRDVVGSGTE LQREGSIETL SNSSGSTSGS 

       910        920 
IPRNFDGYRS PLPTNESQPL SLFPTGFP 

« Hide

Isoform 1.

Checksum: 836663A9AB1C8170
Show »

FASTA91399,625
Isoform 3.

Checksum: DAEC1A4092E62C3D
Show »

FASTA935102,051
Isoform 4.

Checksum: C16F20D1D72DEBDE
Show »

FASTA965105,162
Isoform 5.

Checksum: 52724E335977A709
Show »

FASTA9910,606

References

« Hide 'large scale' references
[1]"Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer."
Baerlund M., Monni O., Weaver J.D., Kauraniemi P., Sauter G., Heiskanen M., Kallioniemi O.-P., Kallioniemi A.
Genes Chromosomes Cancer 35:311-317(2002) [PubMed: 12378525] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH BCAS4.
Tissue: Liver.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Colon.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 475-928 (ISOFORM 4).
Tissue: Brain.
[4]"Five novel genes from 17q23 amplicon have different amplification and overexpression frequency in breast cancer."
Wu G., Couch F.J.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 510-928 (ISOFORM 1).
[5]"Cloning and sequencing of a new isoform similar to FLJ20128."
Bauer M.
Thesis (2002), University of Leipzig, Germany
Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM 5).
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 469-928 (ISOFORM 1).
Tissue: Cervix.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-480 AND SER-488, MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF361219 mRNA. Translation: AAL99632.1.
AF361221 mRNA. Translation: AAL99634.1. Different initiation.
AK000135 mRNA. Translation: BAA90966.1. Different initiation.
AK022526 mRNA. Translation: BAB14078.1. Sequence problems.
AK023054 mRNA. Translation: BAB14380.1. Different initiation.
AK025510 mRNA. Translation: BAB15156.1.
AL831895 mRNA. Translation: CAD38568.1.
AF260268 mRNA. Translation: AAF70324.1. Frameshift.
AJ511332 mRNA. Translation: CAD54076.1.
BC001250 mRNA. Translation: AAH01250.1. Different initiation.
IPIIPI00332095.
IPI00332097.
IPI00332098.
IPI00411606.
IPI00783452.
UniGeneHs.655028

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ9H6U6.

Proteomic databases

PRIDEQ9H6U6.

Genome annotation databases

EnsemblENSG00000141376. Homo sapiens. [Contig view]

Organism-specific databases

GeneCardsGC17P056109.
H-InvDBHIX0021877.
HGNCHGNC:14347. BCAS3.
MIM607470. gene.
PharmGKBPA25286.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9H6U6.

Gene expression databases

BgeeQ9H6U6.
GermOnlineENSG00000141376. Homo sapiens.

Family and domain databases

InterProIPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
[Graphical view]
SMARTSM00320. WD40. 2 hits.
[Graphical view]
PROSITEPS00678. WD_REPEATS_1. False negative.
PS50082. WD_REPEATS_2. False negative.
PS50294. WD_REPEATS_REGION. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

SOURCESearch...

Entry information

Entry nameBCAS3_HUMAN
AccessionPrimary (citable) accession number: Q9H6U6
Secondary accession number(s): Q8IXI6 expand/collapse secondary AC list , Q8NDR8, Q8TDL9, Q8TDM1, Q8WY55, Q9BVF0, Q9H957, Q9H9Y9, Q9NXP4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: July 25, 2003
Last modified: June 16, 2009
This is version 69 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents